Tuesday, February 13, 2001

The world’s leading genetic scientists yesterday formally announced the first detailed analysis of the human genome the so-called “blueprint of life” they produced in June.

Their analysis held surprises.

Although it’s difficult for the nonscientist to grasp the full significance of the startling finds the genome sequencing and its interpretation facilitate, most of the discoveries are immensely important.

They help researchers identify the lines of inquiry that ultimately are expected to revolutionize medicine and lead to new therapies and cures for devastating diseases like Alzheimer’s, Parkinson’s, diabetes and others.

There is no way of predicting when such cures might come. But Peter Bruns, a geneticist and vice president at Bethesda’s (Md.) Howard Hughes Medical Institute, said, “I think we’ll see the scientific findings put to some practical uses very quickly. Not years. Days.”

Even before the genome was sequenced, gene research had linked certain genes with specific illnesses like prostate cancer, glaucoma, muscular atrophy, hardening of the arteries of the heart and more.

And in Boston, physicians last summer successfully injected genes into the hearts of chronically ill heart-attack patients and provoked the growth of new blood vessels. Increasingly, medical pioneers are developing similar gene-based therapies.

Mr. Bruns says such work will be speeded because, “Now the findings are all on the Internet. It’s like having a map of a city that’s so detailed, you can see which homes have refrigerators and what kind.

“If there is spoiled food, you can look to see if it was caused by the lost function of the refrigerator, and get a sense of how to fix it. Or if you know the refrigerator is deficient, you can look to see which of its functions is shot.”

Yesterday, researchers from the government-funded International Human Genome Sequencing Consortium, a group of academic scientists largely financed by the National Institutes of Health, and specialists from investor-owned Celera Genomics Corp. of Rockville, Md., reported that the instructions for creating human life are packed into roughly 30,000 genes. Until now it was thought there were 100,000, as the textbooks declare.

They also found that humans have only about 10,000 more genes than certain worms. Humans have just twice as many genes as a fruit fly, a bug hardly bigger than the word “fly” as printed on this page.

As Mr. Bruns points out, that swats down the previously accepted notion that more complex animals have many more genes, and that the greater multitude of genes accounts for the complex animal’s greater capacities and functioning. It is now clear something else accounts for the greater sophistication and development of humans.

The scientists also found that individual humans are almost identical in their gene makeup, which varies between persons by just 0.1 percent.

Or, as J. Craig Venter, head of Celera, writes, “All the glorious differences among individuals in our species that can be attributed to genes falls in a mere 0.1 percent of the sequence.”

Moreover, the researchers discovered that the genetic instructions are packed into about an inch of the 6-foot-long DNA strand that nestles inside each of the body’s 100 million cells, the building blocks of life. Much of the rest of the molecule contains matter whose function isn’t entirely known. But in light of the new finding, scientists say it is more important than ever to discover what role that material plays.

In one of the more startling observations, the scientists found that the human genome is remarkably similar to that of other, strikingly different animals. Celera reports that there are just 300 human genes that don’t have counterparts in mice.

The various findings reported yesterday appear in two journals. That fact illustrates the gulf and rivalry between the two groups that achieved sequencing breakthroughs.

Celera’s findings come out in this week’s edition of Science, the journal of the American Association for the Advancement of Science. The consortium’s article will appear in the British journal Nature.

There are reports that Dr. Eric Lander of the Whitehead Institute in Cambridge, Mass., lead author of the consortium’s paper, fought to keep Science from publishing the Celera report. He reportedly did so because the two groups are feuding over the method used in achieving the genome sequencing.

The publicly funded consortium is made up of scientists in 16 mostly academic centers in France, Germany, Japan, China, Great Britain and the United States. It is dominated by the American laboratories and the Sanger Center at Cambridge University in England.

As consortium scientists completed segments of their sequencing assignments using an agreed-on method of research, they published them.

Although using a different research protocol, the Celera team incorporated the consortium’s findings as needed. That simplified Celera’s task, speeded operations and saved money.

Partly for that reason, consortium researchers say Celera is using their work, and they say the company’s much-ballyhooed research procedure failed.

Celera denies the contention, with reason. There is huge scientific glory at stake, plus the cachet of success that appeals to would-be investors and to those who might purchase Celera’s further research.

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